Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.P1372H
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CFTR

NM_000492.4:p.P1372H

Associated Papers

Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.

Yıldız CA et al.

Pediatric Pulmonology, 2024

Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.

Yıldız CA et al.

Pediatric Pulmonology, 2024

The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.

Schrijver I et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Evaluation of clinical and genetic characteristics of cystic fibrosis patients in the Southeastern Anatolia of Turkey.

Arik E et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."